Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.

@article{Wilson2001MutationsIC,
  title={Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.},
  author={Scott McG Wilson and Deborah B. Householder and Vincenzo Coppola and Lino Tessarollo and Bernd Fritzsch and Eui Cheol Lee and Dee Goss and George A. Carlson and Neal G. Copeland and Nancy A. Jenkins},
  journal={Genomics},
  year={2001},
  volume={74 2},
  pages={228-33}
}
Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear. Here, we use a positional cloning approach to show that waltzer encodes a novel cadherin (Cdh23), which is most closely related to the Drosophila Fat protein. A single nucleotide deletion in the v(J) allele and a single nucleotide insertion in the v allele are predicted to truncate each protein near the N-terminus and produce a functional null allele… CONTINUE READING